{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16612083",
  "communityStandardTitle": [
    "NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395605[alleleid]",
        "alleleId": 395605,
        "preferredName": "NM_001277115.2(DNAH11):c.10789C>T (p.Gln3597Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/410859",
        "RCV": [
          "RCV000459493"
        ],
        "variationId": 410859
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21882259C>T?assembly=hg19",
        "id": "chr7:g.21882259C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.21842641C>T?assembly=hg38",
        "id": "chr7:g.21842641C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503063",
        "rs": 1060503063
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21842641-C-T?dataset=gnomad_r3",
        "id": "7-21842641-C-T",
        "variant": "7:21842641 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-21842641-C-T?dataset=gnomad_r4",
        "id": "7-21842641-C-T",
        "variant": "7:21842641 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21842641,
          "referenceAllele": "C",
          "start": 21842640
        }
      ],
      "hgvs": [
        "NC_000007.14:g.21842641C>T",
        "CM000669.2:g.21842641C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21882259,
          "referenceAllele": "C",
          "start": 21882258
        }
      ],
      "hgvs": [
        "NC_000007.13:g.21882259C>T",
        "CM000669.1:g.21882259C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 21848784,
          "referenceAllele": "C",
          "start": 21848783
        }
      ],
      "hgvs": [
        "NC_000007.12:g.21848784C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304427,
          "referenceAllele": "C",
          "start": 304426
        }
      ],
      "hgvs": [
        "NG_012886.2:g.304427C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10996,
          "referenceAllele": "C",
          "start": 10995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.8:c.10789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gln3597Ter",
        "hgvsWellDefined": "ENSP00000475939.1:p.Gln3597_Ala4516delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.10789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.10789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gln3597Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gln3597Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10841,
          "referenceAllele": "C",
          "start": 10840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000328843.10:c.10810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330671.7:p.Gln3604Ter",
        "hgvsWellDefined": "ENSP00000330671.7:p.Gln3604_Ala4523delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10820,
          "referenceAllele": "C",
          "start": 10819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000409508.7:c.10789C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475939.1:p.Gln3597Ter",
        "hgvsWellDefined": "ENSP00000475939.1:p.Gln3597_Ala4516delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10841,
          "referenceAllele": "C",
          "start": 10840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "ENST00000620169.4:c.10810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481693.1:p.Gln3604Ter",
        "hgvsWellDefined": "ENSP00000481693.1:p.Gln3604_Ala4523delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377922",
      "coordinates": [
        {
          "allele": "T",
          "end": 10820,
          "referenceAllele": "C",
          "start": 10819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.1:c.10789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gln3597Ter",
        "hgvsWellDefined": "NP_001264044.1:p.Gln3597_Ala4516delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645377922",
      "coordinates": [
        {
          "allele": "T",
          "end": 10996,
          "referenceAllele": "C",
          "start": 10995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002942",
      "geneNCBI_id": 8701,
      "geneSymbol": "DNAH11",
      "hgvs": [
        "NM_001277115.2:c.10789C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264044.1:p.Gln3597Ter",
        "hgvsWellDefined": "NP_001264044.1:p.Gln3597_Ala4516delinsAlaGlnThrThrLeuLeuAsnPheThrValThrGluAspGlyLeuGluAlaGlnLeuLeuAlaGluValValSerIleGluArgProAspLeuGluLysLeuLysLeuValLeuThrLysHisGlnAsnAspPheLysIleGluLeuLysTyrLeuGluAspAspLeuLeuLeuArgLeuSerAlaAlaGluGlySerPheLeuAspAspThrLysLeuValGluArgLeuGluAlaThrLysThrThrValAlaGluIleGluHisLysValIleGluAlaLysGluAsnGluArgLysIleAsnGluAlaArgGluCysTyrArgProValAlaAlaArgAlaSerLeuLeuTyrPheValIleAsnAspLeuGlnLysIleAsnProLeuTyrGlnPheSerLeuLysAlaPheAsnValLeuPheHisArgAlaIleGluGlnAlaAspLysValGluAspMetGlnGlyArgIleSerIleLeuMetGluSerIleThrHisAlaValPheLeuTyrThrSerGlnAlaLeuPheGluLysAspLysLeuThrPheLeuSerGlnMetAlaPheGlnIleLeuLeuArgLysLysGluIleAspProLeuGluLeuAspPheLeuLeuArgPheThrValGluHisThrHisLeuSerProValAspPheLeuThrSerGlnSerTrpSerAlaIleLysAlaIleAlaValMetGluGluPheArgGlyIleAspArgAspValGluGlySerAlaLysGlnTrpArgLysTrpValGluSerGluCysProGluLysGluLysLeuProGlnGluTrpLysLysLysSerLeuIleGlnLysLeuIleLeuLeuArgAlaMetArgProAspArgMetThrTyrAlaLeuArgAsnPheValGluGluLysLeuGlyAlaLysTyrValGluArgThrArgLeuAspLeuValLysAlaPheGluGluSerSerProAlaThrProIlePhePheIleLeuSerProGlyValAspAlaLeuLysAspLeuGluIleLeuGlyLysArgLeuGlyPheThrIleAspSerGlyLysPheHisAsnValSerLeuGlyGlnGlyGlnGluThrValAlaGluValAlaLeuGluLysAlaSerLysGlyGlyHisTrpValIleLeuGlnAsnValHisLeuValAlaLysTrpLeuGlyThrLeuGluLysLeuLeuGluArgPheSerGlnGlySerHisArgAspTyrArgValPheMetSerAlaGluSerAlaProThrProAspGluHisIleIleProGlnGlyLeuLeuGluAsnSerIleLysIleThrAsnGluProProThrGlyMetLeuAlaAsnLeuHisAlaAlaLeuTyrAsnPheAspGlnAspThrLeuGluIleCysSerLysGluGlnGluPheLysSerIleLeuPheSerLeuCysTyrPheHisAlaCysValAlaGlyArgLeuArgPheGlyProGlnGlyTrpSerArgSerTyrProPheAsnProGlyAspLeuThrIleCysAlaSerValLeuTyrAsnTyrLeuGluAlaAsnSerLysValProTrpGluAspLeuArgTyrLeuPheGlyGluIleMetTyrGlyGlyHisIleThrAspAspTrpAspArgLysLeuCysArgValTyrLeuGluGluPheMetAsnProSerLeuThrGluAspGluLeuMetLeuAlaProGlyPheAlaAlaProProTyrLeuAspTyrAlaGlyTyrHisGlnTyrIleGluGluMetLeuProProGluSerProAlaLeuTyrGlyLeuHisProAsnAlaGluIleGluPheLeuThrValThrSerAsnThrLeuPheArgThrLeuLeuGluMetGlnProArgAsnAlaLeuSerGlyAspGluLeuGlyGlnSerThrGluGluLysValLysAsnValLeuAspAspIleLeuGluLysLeuProGluGluPheAsnMetAlaGluIleMetGlnLysAsnSerAsnArgSerProTyrValLeuValCysPheGlnGluCysGluArgMetAsnIleLeuIleArgGluIleArgIleSerLeuGluGlnLeuAspLeuSerLeuLysGlyGluLeuAlaLeuSerProAlaValGluAlaGlnGlnPheAlaLeuSerTyrAspThrValProAspThrTrpSerLysLeuAlaTyrProSerThrTyrGlyLeuAlaGlnTrpPheAsnAspLeuLeuLeuArgCysArgGluLeuAspThrTrpThrGlnAspLeuThrLeuProAlaValValTrpLeuSerGlyPhePheAsnProGlnSerPheLeuThrAlaIleMetGlnThrMetAlaArgLysAsnGluTrpProLeuAspLysThrArgLeuThrAlaAspValThrLysLysThrLysGluAspTyrGlyHisProProArgGluGlyAlaTyrLeuHisGlyLeuPheMetGluGlyAlaArgTrpAspThrGlnAlaGlyThrIleValGluAlaArgLeuLysGluLeuAlaCysProMetProValIlePheAlaLysAlaThrProValAspArgGlnGluThrLysGlnThrTyrGluCysProValTyrArgThrLysLeuArgGlyProSerTyrIleTrpThrPheArgLeuLysSerGluGluLysThrAlaLysTrpValLeuAlaGlyValAlaLeuLeuLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664162",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409508.8:c.10789C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001277115.2:c.10789C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000475939.1:p.Gln3597Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001264044.1:p.Gln3597Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}